Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.040 AlteredExpression disease BEFREE Expression of beta ig-h3 in sub-epithelial matrix and posterior collagenous layer of Fuchs' dystrophy is consistent with the synthesis of new extracellular matrices by epithelial and endothelial tissues. beta ig-h3 mRNA in corneal epithelium further supports an epithelial source of this protein. 8921218 1996
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 GeneticVariation disease BEFREE The R155Q and T502M mutations of COL8A2 may not be the causative defect in the Japanese FECD and PPMD patients examined in this study. 15175909 2004
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 GeneticVariation disease BEFREE Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy. 15914606 2005
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 GeneticVariation disease BEFREE To characterize histologically Descemet's membrane in an early-onset Fuchs corneal dystrophy (FCD) COL8A2 mutant and compare these findings with corneas from late-onset FCD and normal corneas. 16303941 2005
Entrez Id: 5308
Gene Symbol: PITX2
PITX2
0.020 GeneticVariation disease BEFREE A novel PITX2 mutation and a polymorphism in a 5-generation family with Axenfeld-Rieger anomaly and coexisting Fuchs' endothelial dystrophy. 16876867 2006
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 GeneticVariation disease BEFREE The absence of pathogenic mutations identified in the COL8A1 or COL8A2 genes in affected members of 15 pedigrees with familial FECD indicates that other genetic factors are involved in the development of this autosomal dominant corneal dystrophy. 16936088 2006
Entrez Id: 1295
Gene Symbol: COL8A1
COL8A1
0.010 GeneticVariation disease BEFREE Screening of the COL8A1 gene did not reveal sequence variants in any affected individuals from the 15 FECD families. 16936088 2006
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 Biomarker disease BEFREE Our data suggests that SLC4A11 haploinsufficiency and gradual accumulation of the aberrant misfolded protein may play a role in FECD pathology and that reduced levels of SLC4A11 influence the long-term viability of the neural crest derived corneal endothelial cells. 18024964 2008
Entrez Id: 6935
Gene Symbol: ZEB1
ZEB1
0.600 Biomarker disease BEFREE The identification of a novel missense mutation in only one of the patients implied that TCF8 does not play a significant role in the pathogenesis of FECD in this Chinese population. 18172091 2008
Entrez Id: 1191
Gene Symbol: CLU
CLU
0.040 AlteredExpression disease BEFREE Increased clusterin expression in Fuchs' endothelial dystrophy. 18378577 2008
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 GeneticVariation disease BEFREE Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 18464802 2009
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 GermlineCausalMutation disease ORPHANET Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients. 18464802 2009
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 GeneticVariation disease BEFREE To perform a genome-wide linkage screen with a single-nucleotide polymorphism (SNP) linkage panel to identify regions of genetic linkage in Fuchs endothelial corneal dystrophy (FECD) and to analyze affected individuals for mutations in the COL8A2 gene. 18502986 2009
Entrez Id: 1191
Gene Symbol: CLU
CLU
0.040 Biomarker disease BEFREE Colocalization of increased transforming growth factor-beta-induced protein (TGFBIp) and Clusterin in Fuchs endothelial corneal dystrophy. 19011008 2009
Entrez Id: 7045
Gene Symbol: TGFBI
TGFBI
0.040 Biomarker disease BEFREE Colocalization of increased transforming growth factor-beta-induced protein (TGFBIp) and Clusterin in Fuchs endothelial corneal dystrophy. 19011008 2009
Entrez Id: 100380873
Gene Symbol: FECD3
FECD3
0.010 GeneticVariation disease BEFREE To identify the disease locus associated with autosomal dominant Fuchs corneal dystrophy (FCD) in a large family and to compare the progression of severity in families mapped to the FCD1 and FCD2 loci. 19608540 2009
Entrez Id: 100188278
Gene Symbol: FECD2
FECD2
0.010 GeneticVariation disease BEFREE To identify the disease locus associated with autosomal dominant Fuchs corneal dystrophy (FCD) in a large family and to compare the progression of severity in families mapped to the FCD1 and FCD2 loci. 19608540 2009
Entrez Id: 6935
Gene Symbol: ZEB1
ZEB1
0.600 GermlineCausalMutation disease ORPHANET Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. 20036349 2010
Entrez Id: 6935
Gene Symbol: ZEB1
ZEB1
0.600 Biomarker disease GENOMICS_ENGLAND Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. 20036349 2010
Entrez Id: 6935
Gene Symbol: ZEB1
ZEB1
0.600 GeneticVariation disease BEFREE Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. 20036349 2010
Entrez Id: 100380875
Gene Symbol: FECD7
FECD7
0.010 GeneticVariation disease BEFREE Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p. 20036349 2010
Entrez Id: 1296
Gene Symbol: COL8A2
COL8A2
0.600 GeneticVariation disease BEFREE This is the first study analysing COL8A2 gene in Indian patients with FECD. 20144242 2010
Entrez Id: 83959
Gene Symbol: SLC4A11
SLC4A11
0.400 GeneticVariation disease BEFREE Heterozygous mutations in the SLC4A11 gene are also known to cause late-onset FECD. 20144242 2010
Entrez Id: 105378949
Gene Symbol: LOC105378949
LOC105378949
0.010 Biomarker disease BEFREE Mutations in COL8A2 gene which encodes the collagen alpha-2 (VIII) chain have been identified in both familial and sporadic cases of Fuchs endothelial corneal dystrophy (FECD). 20144242 2010
Entrez Id: 6925
Gene Symbol: TCF4
TCF4
0.500 GeneticVariation disease GWASCAT E2-2 protein and Fuchs's corneal dystrophy. 20825314 2010